Sickle cell disease is an inherited illness which denotes all genotypes that contain at least one sickle gene in which hemoglobin S (HbS) makes up at least half of the circulating hemoglobin. Sickle cell disease is a chronic hemoglobinopathy with significant morbidity and mortality. This genetic disease affects particularly persons of African and Mediterranean ethnicity. Sickle cell disease is a genetic autosomal recessive disorder in which the basic abnormality is the mutation substituting thymine for adenine in the sixth codon of the beta-chain gene. That produces a substitution of valine for glutamic acid at the sixth position of the beta-globin chain in red blood cells. The substitution of valine for glutamic acid creates instability in the hemoglobin molecule and begins to form semisolid aggregate structures once the oxygen is unloaded to the tissues.
When red blood cells containing homozygous HbS are exposed to low oxygen conditions, the sickling process begins. After recurrent episodes of sickling, membrane damage occurs and causes the red blood cells to change from their usual biconcave disc shape into an irregular sickled shape. Sickle red blood cells adhere to the inside lining of the vessels (endothelium) because of their increased stickiness and contribute to the initiation of vaso-occlusion of vessels. They also adhere to macrophages which contribute to the hemolytic process.
Complications associated with sickle cell disease include:
Acute chest syndrome
Swelling of extremities
Avascular necrosis of the femoral or humeral head
Delayed sexual maturation
Ventricular and left atrium dilatation
Pregnancy is of particular concern in patients with sickle cell disease. Pregnancy is complicated by:
High rate of spontaneous abortion
Low birth weight
In many states, screening for HbS at birth allows identification of affected individuals for early treatment and control. Prenatal diagnostic tests are available. They include DNA assessment from a chorionic villus biopsy obtained between 8 and 12 weeks of gestation and DNA assessment in amniotic fluid obtained by amniocentesis at approximately 16 weeks of gestation.
Individuals that inherit a sickle cell gene from one parent only are classified as sickle cell trait or carrier. Carriers of sickle cell trait are healthy individuals and do not change to become a sickle cell disease. When two individuals with sickle cell trait consider pregnancy, genetic counseling is indicated because the offspring may inherit two sickle cell genes (one from each parent) and be born with sickle cell disease.
If your child suffers from sickle cell disease and you were not given the option to undergo screening, genetic counseling and/or genetic testing, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
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